A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report
Mihaela Oros,
Lucica Baranga,
Adelina Glangher
et al.
Abstract:Collagen VI-related disorders constitute a spectrum of severities from the milder Bethlem myopathy (BM) to the Ullrich congenital muscular dystrophy (UCMD), which is more severe, and an intermediate form characterized by muscle weakness that begins in infancy. Affected children are able to walk, although walking becomes increasingly difficult starting in early adulthood. They develop contractures in the ankles, elbows, knees, and spine in childhood. In some affected cases, the respiratory muscles are weakened,… Show more
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